Nonprogressive cerebellar hypoplasia was first described by Norman [1940]. It is characterized by nonprogressive ataxia, delay in language acquisition, persistent dysarthria, strabismus, hypotonia, and mental retardation. Neuroimaging demonstrates cerebellar atrophy affecting the vermis and/or hemispheric region. Histologically, severe degeneration of the granular cells with moderate to mild degeneration of the Purkinje cells is noted [Ferrer et al., 1987]. Most reported cases have been sporadic, however, few sibs observations suggest autosomal recessive inheritance [Pascual-Castroviejo et al., 1994].
We report on a large inbred family with 12 cases of apparent Norman disease with short stature, a condi-tion that, to our knowledge, has not been reported before.
CLINICAL REPORTS
Members of the kindred (Fig. 1) are Christian Maronites originating from a village in the North-East of Lebanon. All affected have nearly identical findings and will be described together. A clinical summary of each case is presented in Table I.
Gestation and delivery were unremarkable with no history of exposure to pre-or perinatal environmental toxins. Delay in psychomotor development was evident from infancy. All patients could sit by age 3-6 years and had a limited vocabulary by age 3-5 years. Walking began around age 9-12 years but with truncal titu-Contract grant sponsor: Je ´ro ˆme Lejeune Foundation.